Article
A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
Journal of endocrinological investigation - 1 Jun 2023
Palumbo S, Cirillo G, Sanchez G, Aiello F, Fachin A, Baldo F, Pellegrin M C, Cassio A, Salerno M, Maghnie M, Faienza M F, Wasniewska M, Fintini D, Giacomozzi C, Ciccone S, Miraglia Del Giudice E, Tornese G, Grandone A
Abstract excerpt
PURPOSE: We aimed to investigate a cohort of female and male patients with idiopathic central precocious puberty (CPP), negative for Makorin Ring Finger Protein 3 (MKRN3) defect, by molecular screening for Delta-like 1 homolog (DLK1) defects. DLK1 is an imprinted gene, whose mutations have been described as a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement....
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